Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320690
rs869320690
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
G 0.800 CausalMutation CLINVAR
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT
dbSNP: rs869320690
rs869320690
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
G 0.800 CausalMutation CLINVAR
dbSNP: rs768323248
rs768323248
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.700 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015